Benign adult familial myoclonic epilepsy (BAFME): Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2

Translated title of the contribution: Benign adult familial myoclonic epilepsy (BAFME): Two Italian families with evidence of linkage to chromosome 2p11.1-q12

P. Striano, A. De Falco, F. Zara, A. C. Perretti, S. Striano, F. A. De Falco

Research output: Contribution to journalArticlepeer-review

Abstract

BAFME is an autosomal dominant (AD) syndrome characterized from non progressive cortical tremor (CT) resembling an essential tremor, myoclonic jerks and rare generalized tonic-clonic seizures. First described from Japanese AA, it has been mapped on chromosome 8q24. We describe two new Italian families with BAFME. Video-polygraphic study shows fine arrhythmic myoclonus at upper limbs, generalized paroxysmal activity and photosensitivity at EEG. Jerk-locked back-averaging confirms CT; typical giants SEPs and enhanced C-reflex are presents. Molecular-genetic analysis excluded a linkage to chromosome 8q24 and suggests a linkage to chromosome 2p11.1-q12.2. Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome.

Translated title of the contributionBenign adult familial myoclonic epilepsy (BAFME): Two Italian families with evidence of linkage to chromosome 2p11.1-q12
Original languageItalian
Pages (from-to)59-62
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number118
Publication statusPublished - Oct 2002

ASJC Scopus subject areas

  • Clinical Neurology

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